ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1777+10A>G (rs2286127)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081590 SCV000113521 benign not specified 2012-08-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081590 SCV000312065 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286532 SCV000467251 benign Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334280 SCV000467252 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000286532 SCV000677258 benign Pitt-Hopkins-like syndrome 1 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000286532 SCV001717587 benign Pitt-Hopkins-like syndrome 1 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000286532 SCV001821537 benign Pitt-Hopkins-like syndrome 1 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711247 SCV001945364 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081590 SCV000150756 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081590 SCV001742189 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081590 SCV001928564 benign not specified no assertion criteria provided clinical testing

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